Celiac Disease Diagnosis

A broad international research study conducted by ESPHGHAN (European Society of Gastroenterology, Hepatology, and Nutrition) has found that over 50% of children with Celiac Disease were not required to undergo endoscopy or colon biopsy for diagnosis

Date: 20.08.17 | Update: 25.09.17

A broad international research study conducted by ESPHGHAN (European Society of Gastroenterology, Hepatology, and Nutrition) has found that over 50% of children with Celiac Disease were not required to undergo endoscopy or colon biopsy for diagnosis.

Celiac disease is caused as a result of an immune reaction to the gluten protein, which is found in wheat, barley and rye, and food products containing them. Common symptoms in children include stomach aches with diarrhea, although there can be other signs unrelated to the digestive system. Following exposure to gluten, predisposed children develop autoimmune reactions that mainly affect the lining of the small intestine.

The lining is comprised of many villi whose main function is expanding the interior surface of the intestine so that nutrients can be absorbed and passed into the bloodstream. The typical inflammatory reaction damages the villi lining the intestine and reduces the area and effectiveness of nutritional absorption. Celiac is treatable through a completely gluten-free diet that eradicates the disease symptoms.

Prof. Shamir

Incidence is 1:100 (1% of the population). In the past, diagnosis was achieved through an endoscopic biopsy of the upper intestine (gastroscopy). Research findings indicate that in over half these cases, diagnosis can be achieved without this invasive procedure. To arrive at a diagnosis, doctors take a blood sample for anti-transglutaminase antibodies in the tissues (tTGA-IgA). These autoantigens are proteins produced by the immune cells and directed towards the tissues in the colon. An elevated tTGA-IgA in the blood raises the probability of celiac disease. A gastroscopy and tissue biopsy of the small intestine is required to confirm mucosal lesions. Children are sedated for the procedure.

In the past, the European Society felt that it was possible to omit the intestinal biopsy in children with very high tTGA counts in the blood (10 or more times higher than normal), presenting specific symptoms of celiac disease and the presence of other autoimmune antibodies (EMA-IgA) and genetic risk factors (HLA-DQ2/DQ8). In order to assess the criteria to omit a biopsy, ESPHGHAN conducted an international research study with the participation of 33 pediatric hospitals in 21 countries around the globe including Israel. Data was collected from about 700 children and adolescents regarding the efficiency of various antibodies and the contribution of biopsies for celiac disease diagnosis.

Findings clearly indicated that a combination of a highly elevated tTGA-IgA and positive EM-IgA in a second blood test pointed unequivocally to a diagnosis of celiac disease in children with symptoms without the need for a biopsy. All the patients who filled the criteria tested positive for genetic risk, and therefore confirmed the approach that a biopsy was unnecessary to diagnose celiac disease.

Prof. Shamir noted that “the results are reassuring and provide strong support to the approach of no biopsy as suggested by ESPHGHAN. This approach will save the need for many children having to undergo this invasive procedure along with its complications. At the same time, it is important to note that due to the difficult process required for diagnosis, this should only be undertaken by an experienced pediatric gastroenterologist whether with or without a biopsy.”

The Institute of Gastroenterology, Nutrition and Liver Diseases at Schneider Children’s serves as a national referral center infants, children and adolescents for the diagnosis and treatment of gastrointestinal, liver and pancreatic diseases and nutritional disorders. The Institute is the largest of its kind in Israel and includes a clinic that treats children from all over the country. The vision of the Institute is to serve as a haven for patients and to continue its path alongside global leading medical centers to promote and conduct professional training and research on the highest standards.